Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments

(2017) Jérôme Stirnemann et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Glucosylsphingosine is a key biomarker of Gaucher disease

(2016) Vagishwari Murugesan et al.   AMERICAN JOURNAL OF HEMATOLOGY

Quantitative evaluation of orofacial motor function in mice: The pasta gnawing test, a voluntary and stress-free behavior test

(2016) R. Rabl et al.   JOURNAL OF NEUROSCIENCE METHODS

Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden

(2016) Caroline Ran et al.   NEUROBIOLOGY OF AGING

Impaired gait kinematics in type 1 Gaucher’s Disease

(2016) Pierpaolo Sorrentino et al.   Journal of Parkinsons Disease

Gaucher-Associated Parkinsonism

(2015) Yaqiong Li et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool

(2015) Maria Fuller et al.   CLINICA CHIMICA ACTA

CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11years of therapy: Clinical, histopathologic, and biochemical findings

(2015) Thomas A. Burrow et al.   MOLECULAR GENETICS AND METABOLISM

The clinical management of type 2 Gaucher disease

(2015) Karin Weiss et al.   MOLECULAR GENETICS AND METABOLISM

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice

(2014) You-hai Xu et al.   HUMAN MOLECULAR GENETICS

Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction

(2013) Edward I. Ginns et al.   MOLECULAR GENETICS AND METABOLISM

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

(2013) Arndt Rolfs et al.   PLoS One

Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease

(2012) Einat B. Vitner et al.   BRAIN

Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing

(2011) Valerie Cullen et al.   ANNALS OF NEUROLOGY

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease

(2011) T. Farfel-Becker et al.   HUMAN MOLECULAR GENETICS

Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations

(2011) Jae Hyuk Choi et al.   MOLECULAR GENETICS AND METABOLISM

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

(2011) Y.H. Xu et al.   MOLECULAR GENETICS AND METABOLISM

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders

(2010) Ozlem Goker-Alpan et al.   ACTA NEUROPATHOLOGICA

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

(2010) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry

(2010) Anna Tylki-Szymańska et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A mutation in the saposin C domain of the sphingolipid activator protein (Prosaposin) gene causes neurodegenerative disease in mice

(2010) Azusa Yoneshige et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Specific saposin C deficiency: CNS impairment and acid  -glucosidase effects in the mouse

(2009) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Clinical and genetic study of Japanese patients with type 3 Gaucher disease

(2009) Asako Tajima et al.   MOLECULAR GENETICS AND METABOLISM

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE